A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584346



Internal ID16371755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212203024..212393898hg38UCSC Ensembl
Innerchr2:213067749..213258622hg19UCSC Ensembl
Innerchr2:212775994..212966867hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38190875
hg19190874
hg18190874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930954
Samples
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584346
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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